nist update for swgdam july 2010 · 2017-12-20 · kristen lewis - kinship analysis amy decker left...
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NIST Update for SWGDAM
John M. ButlerFredericksburg, VA
July 15, 2010
Applied Genetics
NIST Human Identity Project Teams within the Applied Genetics Group
Margaret Kline
Becky Hill
Jan Redman Kristen Lewis
O’ConnorPete
Vallone
Dave Duewer
Erica Butts
MikeCoble
John Butler
Forensic DNA Team DNA Biometrics Team
Funding from the National Institute of Justice (NIJ)through NIST Office of Law Enforcement Standards
Funding from the FBI S&T Branchthrough NIST Information Access Division
Data Analysis Support
In March 2010, Mike Coble returned to NIST after 4 years at AFDIL
New Staff and ProjectsErica Butts – DNA extraction
Kristen Lewis - kinship analysis
Amy Decker left for AFDIL in Nov 2009
APPLIED GENETICS GroupMajor Programs Currently Underway
• Forensic DNA– New loci and assays (26plex)– STR kit testing - concordance– Ancestry SNP assays– Low-template DNA studies– Mixture interpretation– SRM 2391c– Variant allele cataloging and
sequencing– Expert systems review– Training workshops to forensic
DNA laboratories– Validation information and
software tools– Textbook – 3rd ed. (2 vol.)
• Clinical Genetics– CMV SRM– Huntington’s SRM
• Ag Biotech– “universal” GMO detection/
quantitation (35S promoter)
• DNA Biometrics– Rapid PCR methods– Efforts to standardize testing of
future portable DNA systems– DNA swab extraction efficiencies– Kinship analysis
• Cell Line Authentication
Applied Genetics
Forensic DNA Standard Reference Materials
http://www.cstl.nist.gov/biotech/strbase/pub_pres/Promega2009poster_SRM2391c.pdf
Will likely run out of SRM 2391b in mid-2011
SRM 2391c Plans• 6 components (different DNA samples)• Inclusion of a mixture sample• Genomic DNA + DNA spotted on paper• Will certify both autosomal STRs and Y-STRs• Will replace both SRM 2391b and SRM 2395
– Goal to have lower cost and single STR SRM
• Have typed >25 DNA candidate samples to assess allele ranges and combinations
• Have studied different formats – buccal swab DNA, etc.
Opinion Poll on SRM 2391c
• Volume provided (20 uL or 50 uL)?• Concentration (1 ng/uL, 2 ng/uL, other)?• Mixture to be provided
– supply reference samples as singles?– Mixture ratio (5:1, 3:1, other?)
• Genomic vs DNA spotted on paper– 5 genomic + 1 spot– 4 genomic + 2 spot
• Paper spots: 903 or FTA?• Sequence information on all alleles?
– will have coverage for all STR kits available
Commercially Available STR KitsApplied Biosystems• AmpFlSTR Blue (1996)• AmpFlSTR Green I (1997)• Profiler (1997)• Profiler Plus (1997)• COfiler (1998)• SGM Plus (1999)• Identifiler (2001)• Profiler Plus ID (2001)• SEfiler (2002)• Yfiler (2004)• MiniFiler (2007)• SEfiler Plus (2007)• Sinofiler (2008) – China only
• Identifiler Direct (2009)• NGM (2009)• Identifiler Plus (2010)• NGM SElect (2010)
Promega Corporation• PowerPlex 1.1 (1997)• PowerPlex 1.2 (1998)• PowerPlex 2.1 (1999)• PowerPlex 16 (2000)• PowerPlex ES (2002)• PowerPlex Y (2003)• PowerPlex S5 (2007)• PowerPlex 16 HS (2009)• PowerPlex ESX 16 (2009)• PowerPlex ESX 17 (2009)• PowerPlex ESI 16 (2009)• PowerPlex ESI 17 (2009)
Qiagen (2010)Primarily selling kits in EuropeDue to patent restrictions
cannot sell in U.S.
• ESSplex• ESSplex SE• Decaplex SE• IDplex• Nonaplex ESS• Hexaplex ESS• HD (Chimera)• Argus X-12• Argus Y-12• DIPlex (30 indels)
Improved buffer formulation to handle PCR inhibitors(user no longer adds TaqGold DNA polymerase)
7 out of 17 5 out of 12
~1/3 of all STR kits were released in the last year
Goals with STR Kit Improvements
• Better resistance to PCR inhibitors• Higher sensitivity• More rapid PCR amplification
Can be achieved through changing:• Primer concentration and chemistry• Polymerase• Buffer (components & concentrations)
20 Minute PCR Amplificationon Cepheid Cycler
28 cycles, Identifiler STR kit, 1 ng of DNA
Full STR profile was obtainedbut would benefit from using a higher primer concentration for
D21S11 and D19S433
Reduced signal
Reduced signal
Using fast cycler and new DNA polymerases
Potential Primer Modifications
5’-ACAGAAGTCTGGGATGTGGA-3’
Fluorescent Dyes
DNA Base Sequence
Mobility Modifiers
DNA Backbone
5’-ACAGAAGTCTGGGATGTAGA-3’A “degenerate” (extra) primer can be added to account for primer binding site mutations
The base sequence determines the primer binding position while the primer concentration helps produce the PCR product yield
Primer Concentration (relative to other primers in the PCR reaction mix)
Recent ABI Patent Applications
• “Method for Direct Amplification from Crude Nucleic Acid Samples” (Identifiler Direct?)– Chang et al. (Jan 21, 2010) US 2010/0015621– Buffer includes 0.2-0.9% polysorbate, 3%-8%
glycerol, and 1000-3000 μg/mL BSA
• “Method and Composition for Nucleic Acid Amplification” (Identifiler Plus?)– Mulero & Hennessy (Jan 1, 2009) US 2009/0004662– Utilize a high stability nucleic acid analog (e.g., LNA
or locked nucleic acid) to overcome PCR inhibitors
To obtain free copies of patent applications, see: http://www.pat2pdf.org/
Locked Nucleic Acids (LNAs)
2’-4’ LNA LNAs are nucleic acid analogues that form standard Watson-Crick base pairs but with increased thermal stability and improved capability for discriminating mismatches – and are more tolerate to PCR inhibitors…
NIST Pipeline for STR Kit AnalysisWork by Becky Hill and Dave Duewer
• Concordance testing with standard samples– Sequence analysis of any null alleles to understand differences
• Locus characteristics– Heterozygote peak height ratios– Stutter percentages (including allele-specific)
• Allele frequencies for all new loci– Across U.S. Caucasian, Hispanic, African American, and Asian
• Probability of identity for different locus sets
PowerPlex® ESX 17 Allelic Ladders
294 alleles!
2 12 11 25 23
16
131712 18
14 15 13 35
11 20 37
Virtual bins added in for fairly commonly observed micro-variants (i.e. >4 mentions on STRBase)
ESX/ESI 17 kits provided by Promega Corporation
Profiles in DNA Article Published April 2010
Volume 13 No. 1, April 2010
http://www.promega.com/profiles/1301/1301_08.html
Strategies for Concordance Testingthe four S’s of concordance studies
http://www.promega.com/profiles/1301/1301_08.html
Standard samplesSoftwareSequencingSTRBase
Concordance Comparisons
http://www.promega.com/profiles/1301/1301_08.html
D22S1045 Discordance
ESX 17 (prototype) = 17,17
NIST 23plex = 15,17
NIST PT84195
NIST NC01 = 15,17
Destabilized some (but uses lower annealing temperature with
fewer amplicons in multiplex)
ESX 17 (final) = 15,17
G T 15 bp upstream impacting forward primer binding with ESX17Promega added additional primer to correct issue
ESI 17 (prototype) = 15,17
NGM = 17,17
D22S1045 Relative PCR Primer Positions
GenBank AL022314
Allele 17
STR repeat region
Sequencing primer
Sequencing primer
D22S1045 sequencing product = 342 bp
99.86%concordance
NIST NC01 = 105 bp
ESX-F
ESX-R
ESX 17 System = 109 bp
NIST 23plex
NIST 23plex
NIST 23plex = 225 bp
ESI-F
ESI-R
ESI 17 System = 334 bp
Extra primer added (ESX-F2)
Discordance at 4 allelesout of 2,886 compared
between the 2 kits
FSI Genetics Forthcoming Article on PowerPlex ESX 17 and ESI 17 Systems
Available online 23 April 2010
New NIST Software ToolsDeveloped by Dave Duewer (NIST)
• STR_MatchSamples– An Excel-based tool
developed to aid comparison of STR genotypes from two or more data sets.
• Tools under development(to aid validation studies)– Peak height ratio– Inter-locus balance– Stutter percentages– Allele frequency
http://www.cstl.nist.gov/biotech/strbase/software.htm
http://www.cstl.nist.gov/biotech/strbase/tools/STR_MatchSamples.xls
From NIST STRBase Website:
Stutter Thresholds for Each Locus PP-ESX17 PP-ESI17
Locus 50% 90% 95% 100% Locus 50% 90% 95% 100%TH01 1.8 3.1 3.4 5.2 TH01 1.7 3.2 3.5 5.5
D2S441 4.8 6.7 7.2 9.8 D2S441 4.2 6.1 6.5 9.6
D16S539 5.8 8.6 9.0 11.1 D16S539 5.3 7.5 7.9 9.3
D8S1179 6.1 7.9 8.7 15.8 FGA 5.7 8.5 9.1 24.5
D19S433 6.2 8.2 8.8 11.4 D19S433 5.7 8.5 9.3 13.6
FGA 6.5 9.1 9.7 11.9 D8S1179 6.0 8.0 8.6 11.0
D18S51 6.9 9.8 10.4 13.3 D10S1248 6.7 8.6 9.2 11.8
D21S11 7.0 8.9 9.5 15.5 vWA 6.8 8.8 9.4 15.6
vWA 7.1 9.3 9.7 14.4 SE33 6.9 9.4 10.1 18.7
D2S1338 7.3 9.4 10.0 13.2 D1S1656 6.9 10.2 11.3 16.2
D3S1358 8.2 10.0 10.5 12.3 D21S11 6.9 9.8 11.6 20.5
D10S1248 8.2 10.4 11.0 16.4 D18S51 7.4 10.4 11.3 24.0
D12S391 8.2 11.9 13.0 16.1 D12S391 7.7 12.1 13.3 28.9
SE33 8.3 10.6 11.5 15.2 D2S1338 8.0 10.4 11.5 17.2
D1S1656 8.5 11.5 12.3 18.1 D3S1358 8.1 9.9 10.4 13.9
D22S1045 8.9 14.5 16.5 21.0 D22S1045 9.3 15.8 16.9 24.7
Allele-Specific Stutter PercentagesTrinucleotide D22S1045
StutterAllele Size # Median
10 84.5 21 1.811 87.4 134 3.012 90.4 37 4.214 96.4 51 7.215 99.4 165 8.916 102.4 120 10.517 105.5 105 14.7
Avg 633 7.2SD 4.6
ESX 17
Avg + 3SD
21.0%633 data points
StutterAllele Size # Median
10 308.7 22 1.911 311.8 98 2.812 314.8 32 4.514 321.0 36 6.115 324.0 150 9.916 327.1 94 9.817 330.1 95 14.2
Avg 527 7.0SD 4.4
ESI 17
527 data points
Avg + 3SD
20.2%
Peak Height Ratios Across All Loci in a New STR Kit
Probability of Identity with Various Populations and Sets of STR Loci
Probability of Identity
Set of STR Loci # STR Loci Total CaucasianAfrican
American Hispanic Asian
ESS 7 7.51 x 10-10 1.75 x 10-9 1.51 x 10-9 1.61 x 10-9 8.10 x 10-9
SGM Plus 10 6.47 x 10-14 3.90 x 10-13 8.80 x 10-14 2.27 x 10-13 1.74 x 10-12
CODIS 13 13 4.58 x 10-16 3.00 x 10-15 8.90 x 10-16 1.53 x 10-15 8.18 x 10-15
PP16* 15 2.87 x 10-19 5.92 x 10-18 8.85 x 10-19 -- --
Identifiler 15 5.46 x 10-19 6.91 x 10-18 7.03 x 10-19 2.86 x 10-18 1.89 x 10-17
ESX or ESI 16 15 2.58 x 10-20 2.02 x 10-19 3.87 x 10-20 4.53 x 10-19 3.14 x 10-18
ESX or ESI 17 16 1.61 x 10-22 1.43 x 10-21 4.04 x 10-22 3.86 x 10-21 3.63 x 10-20
Probability of Identity (PI): Probability that two individuals selected at random will have an identical genotype at the tested locus (Sensabaugh 1982)
U.S. EuropePP16 Identifiler MiniFiler ESX/ESI17 NGM SEfiler SGM Plus
TPOX TPOXCSF1PO CSF1PO CSF1POD5S818 D5S818D7S820 D7S820 D7S820
D13S317 D13S317 D13S317FGA FGA FGA FGA FGA FGA FGAvWA vWA vWA vWA vWA vWA
D3S1358 D3S1358 D3S1358 D3S1358 D3S1358 D3S1358D8S1179 D8S1179 D8S1179 D8S1179 D8S1179 D8S1179D18S51 D18S51 D18S51 D18S51 D18S51 D18S51 D18S51D21S11 D21S11 D21S11 D21S11 D21S11 D21S11 D21S11
TH01 TH01 TH01 TH01 TH01 TH01D16S539 D16S539 D16S539 D16S539 D16S539 D16S539 D16S539
D2S1338 D2S1338 D2S1338 D2S1338 D2S1338 D2S1338D19S433 D19S433 D19S433 D19S433 D19S433
D12S391 D12S391D1S1656 D1S1656D2S441 D2S441
D10S1248 D10S1248D22S1045 D22S1045
SE33 SE33Penta DPenta E
STR Loci Present in Commercial Kits
U.S. is looking to expand the core loci (18-20 total) to provide more international overlap
New STR Loci Adopted In Europe• Approved November 30th, 2009• Expand the European Standard Set (ESS)
– FGA, vWA, D3S1358, D8S1179, D18S51, D21S11, TH01
• Additional 5 STR loci– D1S1656 and D12S391– D2S441, D10S1248, D22S1045
• Extra loci to be considered?– D16S539 (CODIS locus)– D2S1338 and D19S433– Penta D and Penta E– SE33
May impact future U.S. expansion of loci
1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 X Y
Chromosomal Positions for the European Standard Set
and Other Common STR Markers Used
D1S1656
D2S441
D3S1358
D2S1338
FGA
SE33
D8S1179
D10S1248
TH01
vWA
D12S391
D16S539
D18S51 D21S11
D22S1045
AMEL
AMEL
European Standard Set + D16S539, D2S1338, D19S433, SE33
D19S433
6.3 Mb apart
Evaluation of New European STR Loci• U.S. population data collected using multiple kits
– Examined U.S. population data from 1443 individuals (Caucasian, African American, Hispanic, Asian)
– PowerPlex ESX 17 & ESI 17 Systems (Promega)– AmpFlSTR NGM Kit (Applied Biosystems)
• Linkage analysis of vWA and D12S391– Located 6.3 Mb apart on chromosome 12– With unrelated individuals, no significant linkage in
agreement with Phillips, C., et al. (2010)– With related individuals, linkage observed– Recommending use of diplotypes with relatives – see
Lewis, K.E., et al. (submitted)
Summary of NIST Samples Evaluated• U.S. Population Samples (657 samples)
– Previously studied with Identifiler, MiniFiler, Yfiler, PP16, miniSTRs, and many additional assays (>200,000 allele calls)
– 260 African Americans, 260 Caucasians, 140 Hispanics, and 3 Asians
• U.S. Father/Son pairs (786 samples)– Previously studied with Identifiler, MiniFiler, Yfiler– ~100 fathers/100 sons for each group: African Americans,
Caucasians, Hispanics, and Asians
• NIST SRM 2391b PCR DNA Profiling Standard (12 samples)– Components 1-10 (includes 9947A and 9948): well characterized– ABI 007 and K562
Total number of samples attempted = 14551443 samples with complete profiles
http://www.cstl.nist.gov/biotech/strbase/NISTpop.htm
0.93770.88370.87260.86980.86910.86500.82960.80890.79990.79710.78050.77910.77290.75480.74930.7479
--Heterozygosity
1711
15391
276435
300406
13666
6678
45120
6666
363
Theoretical Genotypes
34310173103111120958342484130474531253
Genotypes Observed
5817132329242816111112915111182
Number of Alleles
SE33D1S1656D2S1338D18S51FGAD12S391D21S11D19S433vWAD8S1179D10S1248D16S539D2S441D22S1045D3S1358TH01AmelogeninMarker
0.94260.88060.88210.86990.85980.86510.82930.79840.78660.79610.74600.76500.74990.73180.73050.7572
--PIC
PowerPlex® ESI 17 Population Data (N=1443)
6.3 1 0.0 0.17 1 0.0 0.18 1 0.0 0.1
10.2 1 0.0 0.111 1 0.0 0.1
11.2 2 0.1 0.212 11 0.4 0.3 0.5 0.4
12.2 4 0.1 0.2 0.313 31 1.1 1.1 1.5 1.0
13.2 9 0.3 1.014 85 2.9 5.1 0.2 2.5 2.4
14.2 10 0.3 0.4 0.4 0.315 102 3.5 3.9 1.2 3.9 3.9
15.2 8 0.3 0.3 0.716 144 5.0 4.8 4.7 4.0 6.7
16.2 5 0.2 0.3 0.1 0.116.3 2 0.1 0.3
17 205 7.1 9.3 4.0 6.2 7.317.2 1 0.0 0.117.3 5 0.2 0.1 0.2 0.3
18 268 9.3 12.1 5.0 7.2 11.018.3 1 0.0 0.1
19 250 8.7 12.4 6.2 6.6 8.019.2 8 0.3 0.2 0.4 0.4
20 216 7.5 10.9 9.2 5.4 4.820.2 20 0.7 0.3 1.2 1.1 0.3
21 108 3.7 4.6 6.7 2.4 2.721.2 48 1.7 1.1 1.7 2.4 1.3
22 42 1.5 1.3 1.7 1.5 1.322.2 65 2.3 0.4 3.2 3.8 1.9
23 12 0.4 0.6 1.0 0.2 0.123.2 91 3.2 2.2 4.2 4.3 2.1
24 1 0.0 0.124.2 74 2.6 1.3 6.2 2.2 2.525.2 109 3.8 2.6 6.9 4.0 3.1
26 1 0.0 0.126.2 163 5.6 6.1 5.2 4.3 7.1
27 1 0.0 0.127.2 225 7.8 4.3 10.4 9.5 8.627.3 2 0.1 0.3
28 2 0.1 0.1 0.228.2 180 6.2 4.4 7.9 7.4 6.128.3 2 0.1 0.1 0.1
29 1 0.0 0.229.2 147 5.1 2.7 5.7 6.3 6.329.3 1 0.0 0.2
30 1 0.0 0.130.2 111 3.8 1.6 3.2 5.8 4.6
31 3 0.1 0.1 0.231.2 52 1.8 1.5 2.5 2.2 1.3
32 1 0.0 0.132.2 25 0.9 0.4 0.7 1.3 0.9
33 2 0.1 0.1 0.133.2 11 0.4 0.3 0.5 0.4
34 9 0.3 0.3 0.734.2 1 0.0 0.1
35 1 0.0 0.136 2 0.1 0.2
Total Populations, %Allele # % Af Am Asian Cauc Hisp
Total Populations, %Allele # % Af Am Asian Cauc Hisp
SE33 (58 alleles observed)
343 genotypes observedHeterozygosity = 0.9377
Total Populations, %Locus Allele # % Af Am Asian Cauc Hisp
14 1 0.0 0.115 148 5.1 8.0 4.0 3.5 4.316 106 3.7 6.3 1.0 2.3 3.717 327 11.3 14.6 9.2 12.5 6.7
17.1 4 0.1 0.417.3 29 1.0 0.4 1.8 1.2
18 616 21.3 27.0 24.5 17.4 17.418.1 1 0.0 0.118.3 34 1.2 0.3 2.4 1.3
19 447 15.5 14.7 17.3 12.4 19.619.1 7 0.2 0.7 0.119.3 14 0.5 0.3 0.2 0.5 0.7
20 390 13.5 10.7 19.1 11.1 17.320.1 2 0.1 0.220.3 1 0.0 0.1
21 296 10.3 6.6 9.2 12.6 12.522 200 6.9 4.0 7.4 10.0 6.3
22.2 1 0.0 0.123 141 4.9 3.3 3.7 6.7 5.224 72 2.5 1.2 1.2 4.9 1.6
24.3 1 0.0 0.225 33 1.1 0.9 1.7 1.5 0.626 9 0.3 0.7 0.2 0.627 6 0.2 0.5 0.1 0.4
D12S391(#allele: 24)
Heterozygosities
Asian 0.8424African Am 0.8453Hispanic 0.8487Caucasian 0.9002
24 alleles &120 genotypes
observed
NIST 26plex published in J. Forensic Sci. (Sept 2009)
1 ng DNA sample
9947A
Gen
der i
dent
ifica
tion
+ 25
aut
osom
al S
TRs
in a
sin
gle
ampl
ifica
tion
Hill, C.R., et al. (2009) A new STR 26plex assay for human identity testing. J. Forensic Sci. 54: 1008-1015Primer sequences and GM bins & panels available: http://www.cstl.nist.gov/biotech/strbase/str26plex.htm
Sex-typing (amelogenin)
25 new STR loci (unlinked from 13 CODIS core loci)
Kinship Analysis
• Provide technical expertise and advice to DHS and other federal agencies as needed
• Examine impact of additional STR loci (and other genetic markers) on addressing specific kinship questions
• Simulate likelihood ratio distributions with different sets of STR loci and different potential relationships
• Examine different software programs (and develop approaches for lab validation including investigating possible standard data sets for software testing)
Work by Kristen Lewis O’Connor, NIST NRC Postdoc(PhD research with Bruce Weir at University of Washington on familial search issues)
US Citizenship and Immigration Services (USCIS)
• Immigration cases– 1,107,126 obtained legal permanent
residence in US in 2008– 103,456 were relatives of US alien
resident
• Refugee/asylum cases– 400 applications processed per day– 60,108 refugees admitted in 2008– 34,753 were relatives of applicant
• Support relationship claim with interview and documents
• Fraudulent claims (79%)
?
Chris Miles, DHS
Currently: Optional DNA Testing for Immigration
• DNA may be used if interview and documents are insufficient
• Number of cases:~ One dozen accredited labs in US~ 3,500/yr for small lab, ~10,000/yr large lab
• Time: Minimum two-day lab analysis; up to six months to coordinate with embassy
• Cost: $600-1500 for private lab testing– Applicant pays (usually US resident, “anchor”)
Comparison LR for 34 & 19
LR for 18 & 19
LR for 34 & 10
Parent-Child 1.28E+06 9.08E+05 0.00E+00
Full Siblings 3.22E+04 2.76E+07 6.07E-03
Half Siblings 7.38E+03 4.89E+04 6.65E-01
Cousins 1.95E+02 8.96E+02 1.52E+00
Uncle-Nephew 7.38E+03 4.89E+04 6.65E-01
Grandparent-Grandchild 7.38E+03 4.89E+04 6.65E-01
Likelihood Ratios with 15 Loci
Parent/Child
FullSibs
Uncle/Nephew
LR calculations were performed with GeneMarker® HIDv1.90
Comparison LR for 34 & 19
LR for 34 & 19
LR for 18 & 19
LR for 18 & 19
LR for 34 & 10
LR for 34 & 10
Parent-Child 1.28E+06 6.68E+16 9.08E+05 0.00E+00 0.00E+00 0.00E+00
Full Siblings 3.22E+04 5.73E+12 2.76E+07 1.57E+19 6.07E-03 3.30E+03
Half Siblings 7.38E+03 8.63E+11 4.89E+04 4.99E+12 6.65E-01 8.98E+05
Cousins 1.95E+02 1.32E+08 8.96E+02 1.05E+09 1.52E+00 2.17E+04
Uncle-Nephew 7.38E+03 8.63E+11 4.89E+04 4.99E+12 6.65E-01 8.98E+05
Grandparent-Grandchild 7.38E+03 8.63E+11 4.89E+04 4.99E+12 6.65E-01 8.98E+05
Benefit of Additional LociLikelihood Ratios with 40 Loci
Parent/Child
FullSibs
Uncle/Nephew
15 40 15 40 15 40
LR calculations were performed with GeneMarker® HIDv1.90
15 STR loci typed with commercial Identifiler kit25 STR loci typed with an in‐house NIST assayHill, C.R., Butler, J.M., Vallone, P.M. (2009) A 26plex autosomal STR assay to aid human identity testing. J. Forensic Sci. 54(5): 1008‐1015.
Kinship Analysis Software
• Public/commercial availability1. GeneMarker® HID v1.90 (SoftGenetics)2. DNA-VIEW™ v29.23 (Charles Brenner)3. LISA (Future Technologies Inc.)4. KIn CALc v4.0 (CA DOJ)5. FSS-ibd v.0.10.13 (Forensic Science Service)
• Restricted availability6. CODIS 6.0 (FBI)
New STRBase Website on LT-DNA (LCN)http://www.cstl.nist.gov/biotech/strbase/LTDNA.htm
Complete Set of NIST Sensitivity Data Available on New LT-DNA Website
http://www.cstl.nist.gov/biotech/strbase/LTDNA.htm
Literature Listing on LT-DNA (LCN)
Subdivided into categories• Peer-reviewed literature (containing data)• Reports (evaluating the methodology)• Review articles (commenting on other's data)• Non-peer reviewed literature (representing the authors'
opinions only)
http://www.cstl.nist.gov/biotech/strbase/LTDNA.htm
Links to papers when freely available
Profiles in DNA (April 2010)http://www.promega.com/profiles/
New Profiles in DNA Article on Low Level DNA
The Expansion of Forensic DNA Typing
Feb 2005
2nd Edition
688 pp.Jan 2001
335 pp.
1st Edition
17 chapters 24 chapters
3rd Edition
Sept 2009
Advanced Topics25 chapters (~600 pp.)
Fundamentals18 chapters (504 pp.)
Chinese Translation (2007) Y. Hou, translator
Japanese Translation (2009) Y. Fukuma, translator Planned for 2011
Improved Reference FormatForensic DNA Typing
(2nd Edition)Fundamentals
(3rd Edition)
>1500 references total(>600 new since 2nd edition)
>1500 references total(>600 new since 2nd edition)
Full list of authors but no article titleSubdivided by subject
with article title provided
Chapters Re-ordered to Reflect DNA Testing Process
Fundamentals of Forensic DNA Typing (2009)
Collection
Extraction
Quantitation
STR Markers
DataInterpretation
Sample Storage
Amplification
Statistical Interpretation
Characterization
Separation/Detection
Biol
ogy
Tech
nolo
gyG
enet
ics
Ser
olog
y
Steps Involved
The NIST Human Identity Project Team(Forensic DNA & DNA Biometrics)
Funding from the National Institute of Justice (NIJ) through the NIST Office of Law Enforcement Standards and the FBI S&T Branch through the NIST Information Access Division
Applied Genetics
Project Leader, Forensic DNA
Project Leader, DNA Biometrics
…Bringing traceability and technology to the scales of justice…
Margaret Kline
Becky Hill
Jan Redman
Pete Vallone
John Butler
Dave Duewer
Erica Butts
MikeCoble
Workshops &
TextbooksDNA Extraction
Efficiency
Mixtures, mtDNA & Y
Software Tools & Data Analysis
Concordance & LT-DNA
Variant alleles & Cell Line ID
Kinship Analysis
STRBase Support
Rapid PCR & Biometrics
http://www.cstl.nist.gov/biotech/strbase/[email protected]
301-975-4049
Kristen Lewis O’Connor
Questions?